Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCTCAGGCCGCCACCTCTGCTGCC[A/G]GGCAGTCCAGGTCCTCAGCTTCCCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182810 MIM: 613363 | ||||||||||||||||||||
Literature Links: |
SPTAN1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SPTAN1 - spectrin alpha, non-erythrocytic 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130438.2 | 1713 | Intron | NP_001123910.1 | |||
NM_001195532.1 | 1713 | Intron | NP_001182461.1 | |||
NM_003127.3 | 1713 | Intron | NP_003118.2 | |||
XM_006717245.1 | 1713 | Intron | XP_006717308.1 | |||
XM_006717246.1 | 1713 | Intron | XP_006717309.1 | |||
XM_006717247.2 | 1713 | Intron | XP_006717310.1 | |||
XM_006717248.2 | 1713 | Intron | XP_006717311.1 | |||
XM_006717249.1 | 1713 | Intron | XP_006717312.1 | |||
XM_006717250.1 | 1713 | Intron | XP_006717313.1 | |||
XM_006717251.2 | 1713 | Intron | XP_006717314.1 | |||
XM_006717252.2 | 1713 | Intron | XP_006717315.1 | |||
XM_006717253.1 | 1713 | Intron | XP_006717316.1 | |||
XM_006717254.2 | 1713 | Intron | XP_006717317.1 | |||
XM_017015059.1 | 1713 | Intron | XP_016870548.1 | |||
XM_017015060.1 | 1713 | Intron | XP_016870549.1 | |||
XM_017015061.1 | 1713 | Intron | XP_016870550.1 |
WDR34 - WD repeat domain 34 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_052844.3 | 1713 | Missense Mutation | CCG,CTG | P,L 530 | NP_443076.2 | |
XM_011519179.2 | 1713 | Missense Mutation | CCG,CTG | P,L 502 | XP_011517481.1 |